G13C (p.Gly13Cys) variant of TUBB3 (Tubulin beta-3 chain)
G13C (p.Gly13Cys) in TUBB3 (Tubulin beta-3 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
G13C (p.Gly13Cys) variant details
- p.Gly13Cys
- gnomAD 16-89923438-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- REVEL 0.86
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available